Nucleotide Polymorphisms In Primary Intraocular Lymphoma

目前尚无已知的潜在遗传缺陷导致患者发生原发性眼内淋巴瘤(PIOL)。发现易发生PIOL的遗传因素将有助于PIOL的早期诊断、预后分期和新的治疗方法的开发。直到最近，研究癌症病因的遗传学方法一直依赖于利用基于传统孟德尔遗传模式的连锁方法。许多疾病很可能是多种遗传因素的结果，因此不太适合用传统的连锁分析和定位克隆方法来分离单基因。单核苷酸多态(SNPs)是人类基因组最常见的变异来源。SNPs是DNA序列中的单碱基差异，可以在群体中的个体之间观察到。SNP是根据在一个或多个人口中至少1%的患病率来定义的。SNP以1/1000个碱基对的平均频率存在于整个基因组中。我们建议分析SNPs的频率，特别是在生物学上可信的负责先天性免疫系统功能的基因的编码框架内。白介素10和白介素6在PIOL患者的玻璃体体液和脊髓液中的比例失调，这导致了一种假说，即这些或其他白介素类的功能或表达的改变可能允许这种罕见的恶性肿瘤的发生。目前还没有得到任何结果。

There is no known underlying genetic defect predisposing patients to develop primary intraocular lymphoma (PIOL). Discovery of genetic factors predisposing to the development of PIOL would be of benefit for early diagnosis, prognostic staging, and development of novel treatments for PIOL. Until recently, genetic approaches to investigate the etiology of cancer have relied upon methods utilizing linkage based on traditional Mendelian inheritance patterns. It is probable that many diseases are a consequence of multiple genetic factors, and are therefore less amenable to study using traditional methods of linkage analysis and positional cloning to isolate single genes. Single nucleotide polymorphisms (SNPs) are the most common sources of variation in the human genome. SNPs are single-base differences in the DNA sequence that can be observed among individuals in a population. A SNP is defined on the basis of a frequency of at least 1% prevalence in one or more populations. SNPs are present throughout the genome at an average frequency of 1/1000 base pairs. We propose to analyze the frequency of SNPs specifically within the coding frames of biologically plausible genes responsible for function of the innate immune system. The interleukins are a specific pathway of interest because previous research has demonstrated derangements in the ratios of interleukins 10 and 6 in the vitreous humor and spinal fluid of patients with PIOL, leading to the hypothesis that altered function or expression of these or other interleukins could permit the development of this rare malignancy. No results have yet been obtained.